Mack was diagnosed with 2 genetic conditions after being admitted to the Epilepsy Unit at Akron children’s hospital for 5 days for his infantile spasms diagnosis. His genetic conditions (18p deletion and 7qDupe) were inherited from Blake who is not symptomatic. Mack was diagnosed November of 2024 and 4 months of age and after trying all front line treatments and going through 4 neurologists at Akron children’s he is still having around 20 spasms everyday. His MRI from this admission showed multiple brain abnormalities that are the cause of his seizures  including white matter loss, enlarged ventricles, and nodules in his ventricles. We have tried vigabatrin, prednisolone (high dose) keppra and now the ketogenic diet. 
Mack is also developmentally delayed and has the skills that a typical 3 month old would have, and he’s 11 months old. He has been in a vegetative state since birth. He is unable to roll over, sit up, control his head or abdomen. 
His EEG is very chaotic all the time, not just during spasms. This means he’s having seizure activity in his brain around the clock which contributes to him being so delayed and unable to interact with people like a typical 11 month old. All of his neurologists agree he will never walk talk or be independent, just based on his brain activity now, and his physical brain abnormalities caused by his genetic conditions. 

Here’s a picture of Mack half way through the steroid treatment, which made him gain weight and have chubby cheeks.